颅内动脉瘤分子病理学研究:APOA基因多态性

目的 本研究拟从基因水平探讨APOA基因多态性与颅内动脉瘤发病的相关性。方法选择58例经全脑动脉造影证实为颅内动脉瘤的患者以及健康对照组58例．采集血浆．提取淋巴细胞基因组DNA，采用聚合链式反应(PCR)结合非变性聚丙烯酰胺凝胶电泳(PAGE）检测APOA 5’调控区五核苷酸TTTTA重复序列(PNR)的基因多态性，运用统计学方法分析基因与疾病的相关性。结果两组人群共检出8种APOAPNR基因型和6种等位基因．两组间APOAPNR基因型与等位基因频率比较，差异有显著意义。动脉瘤组．PNR-5等位基因的频率和PNR5／8的基因型频率显著高于健康对照组，PNR-9等位基因的频率和PNR8／9基因型的频率显著低于健康对照组。结论APOA PNR(TTTTA)拷贝数为5的等位基因推测与颅内动脉瘤的发生有正相关性。

Molecular pathological study of intracranial aneurysm: APOA gene polymorphism

Objective To study the relationship between a pentanucleotide repeats (PNR) polymorphism of APOA and the genesis of intracranial aneurysm. Methods 58 patients with intracranial aneurysms diagnosed by angiography and 58 healthy controls were enrolled in our study. The gene polymorphism of APOA P NR was detected by polymerase chain reaction (PCR) and non-denatured polyacrylam ide gel electrophoresis (PAGE). Results 8 kinds of gene types and 6 kinds of alleles were found in this 2 groups. There were two sites of sequence varianc e in the 5,control region of APOA gene, which were significant different between the patients and controls. Conclusion There may be positive relationship between intracranial aneurysm and APOA gene, which should be further determined.